R157G (p.Arg157Gly) variant of PMP22 (Peripheral myelin protein 22)
R157G (p.Arg157Gly) in PMP22 (Peripheral myelin protein 22) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Charcot-Marie-Tooth disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
R157G (p.Arg157Gly) variant details
- p.Arg157Gly
- rs28936682
- ClinGen CA398739445
- ClinVar RCV000789530
- UniProt VAR 009663
- Uncertain significance
- Charcot-Marie-Tooth disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.911
- AlphaMissense 0.90
- MetaLR 0.94
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.69
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease)
- EBI: Pathogenic (in dbSNP:rs28936682)
- UniProt: Pathogenic (in dbSNP:rs28936682)
- Structural context available
- Cited in: Hemizygous mutation of the peripheral myelin protein 22 gene associated with Charcot-Marie-Tooth disease type 1. (PMID 10632107)
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)